loading...| Preferred Name |
Pentalogy of Cantrell |
| ID |
http://www.orpha.net/ORDO/Orphanet_1335 |
| alternative_term |
Thoraco-abdominal syndrome Cantrell syndrome Cantrell deformity |
| definition |
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Not applicable |
| hasDbXref |
MeSH:D058502 UMLS:C0559483 ICD-10:Q89.7 ICD-11:LD2F.1Y OMIM:313850 |
| label |
Pentalogy of Cantrell |
| notation |
ORPHA:1335 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 |
| prefixIRI |
ORDO:Orphanet_1335 |
| prefLabel |
Pentalogy of Cantrell |
| present_in |
Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.55 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 |
| subClassOf |